ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.42G>C (p.Leu14=)

gnomAD frequency: 0.00005  dbSNP: rs377590077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732452 SCV000860413 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078764 SCV001131183 benign Intellectual disability, CASK-related, X-linked 2024-04-02 criteria provided, single submitter clinical testing

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